Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MUC4_chr3_195741771_195816929	195767530	G G	GCCACCAC others(203): Show GCCACCACCATCATCACCATCACCATCACCACCACCATCATCACCACCAT CACCACCACCACCACCAACACTACCACCACCATCACCATCACCACCACCA TCACCATCACCACCACCATCACCATCACCACCACCATCACCATCACCACC ACCATCGCCACCACCATCATCACCATCACCATCACCACCACCATCATCAC CACCATCACCA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0041 a0041	a0041c0093 a0041c0093	a0041c0093t0001 a0041c0093t0001	a0041c0093t0001g0057 a0041c0093t0001g0057	1	123	0.0081	210	c.135 others(229): Show c.13530-780_13530-779insTGGTGATGGTGGTGATGATGGTGGTG GTGATGGTGATGGTGATGATGGTGGTGGCGATGGTGGTGGTGATGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGATGG TGATGGTGGTGGTAGTGTTGGTGGTGGTGGTGGTGATGGTGGTGATGATG GTGGTGGTGATGGTGATGGTGATGATGGTGGTGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195775770	C C	CCATACCT others(203): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACATCCATACCTTCCACACCCATAACTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACGGCCATA CCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0095 a0095	a0095c0151 a0095c0151	a0095c0151t0011 a0095c0151t0011	a0095c0151t0011g0205 a0095c0151t0011g0205	1	243	0.0041	210	c.129 others(231): Show c.12944-1466_12944-1465insACTGTGGAAGGTATGGCCGTGGAA GGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAT GGGTGTGGAAGTTATGGGTGTGGAAGGTATGGATGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776402	A A	ATACCTTC others(203): Show ATACCTTCCACGGCCATACCTTCCACACCCTTACCTTCCACACCCATACC TTCCACACCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCA CGGCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACGGCCATACC TTCCACACCCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp2 HG01192.hp2 HG01346.hp2	a0038 a0043 a0038 a0043	a0038c0161 a0043c0103 a0038c0161 a0043c0103	a0038c0161t0015 a0043c0103t0004 a0038c0161t0015 a0043c0103t0004	a0038c0161t0015g0234 a0043c0103t0004g0238 a0038c0161t0015g0234 a0043c0103t0004g0238	2	233	0.0086	210	c.129 others(231): Show c.12943+1900_12943+1901insAGGGTGTGGAAGGTATGGCCGTGG AAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGT ATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGG TGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGG AAGGTAAGGGTGTGGAAGGTATGGCCGTGGAAGGTA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776505	C C	CCATACCT others(203): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCGCACCCATACCTTCCACAGTCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0002 a0019c0023t0002	a0019c0023t0002g0144 a0019c0023t0002g0144	1	227	0.0044	210	c.129 others(231): Show c.12943+1797_12943+1798insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGACTG TGGAAGGTATGGGTGCGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777149	T T	TCCATACC others(203): Show TCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTT CCACACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAGTCAT ACCTTCCACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG00741.hp2 HG01256.hp1	a0003 a0003	a0003c0004 a0003c0145 a0003c0004 a0003c0145	a0003c0004t0003 a0003c0145t0003 a0003c0004t0003 a0003c0145t0003	a0003c0004t0003g0207 a0003c0145t0003g0216 a0003c0004t0003g0207 a0003c0145t0003g0216	2	54	0.0370	210	c.129 others(231): Show c.12943+1153_12943+1154insGTGTGGAAGGTATGACTGTGGAAG GTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATG GGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGT GGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAG GTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777388	A A	AGTCATAC others(203): Show AGTCATACCTTCCACGCCCATACCTTCCACAGTCATACCTTCCACACCCA TACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCT TCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCAC AGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCA TACCTTCCACG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0048 a0048	a0048c0040 a0048c0040	a0048c0040t0001 a0048c0040t0001	a0048c0040t0001g0135 a0048c0040t0001g0135	1	247	0.0040	210	c.129 others(229): Show c.12943+914_12943+915insCGTGGAAGGTATGGGTGTGGAAGGTA TGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGT GTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGA AGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTA TGACTGTGGAAGGTATGGGCGTGGAAGGTATGAC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777495	C C	CCATACCT others(203): Show CCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACGGCCATA CCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATA TCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0066 a0066	a0066c0118 a0066c0118	a0066c0118t0004 a0066c0118t0004	a0066c0118t0004g0229 a0066c0118t0004g0229	1	226	0.0044	210	c.129 others(229): Show c.12943+807_12943+808insACTGTGGAAGATATGGGTGTGGAAGG TATGACTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGG GTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTG GAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGCCGTGGAAGG TATGGGTGTGGAAGGTATGGCCGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777598	A A	AGTCATAC others(203): Show AGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCA TACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCT TCCACATCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCAC ACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGCCA TACCTTCCACG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0097 a0097	a0097c0149 a0097c0149	a0097c0149t0003 a0097c0149t0003	a0097c0149t0003g0209 a0097c0149t0003g0209	1	245	0.0041	210	c.129 others(229): Show c.12943+704_12943+705insCGTGGAAGGTATGGCCGTGGAAGGTA TGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGT GTGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGA AGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTA TGACTGTGGAAGGTATGGGTGTGGAAGGTATGAC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(203): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATATAATATATAATATATATAATATATATTATATATATAATA TATAATATATATTATATATTATAATATATAATATATATTATATATATAAT ATATATTATATATAATATATATTATATATATATAATATATATAATATATA TTTTAAATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	50	0.0200	210	c.547 others(227): Show c.5473-422_5473-421insTATATTTAAAATATATATTATATATATT ATATATATATAATATATATTATATATAATATATATTATATATATAATATA TATTATATATTATAATATATAATATATATTATATATTATATATATAATAT ATATTATATATATTATATATTATATATATTATATATATAATATATATTAT ATATATTATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYO3B_chr2_170173147_170660167	170648633	T T	TATATATA others(203): Show TATATATATTATATTCTATATAATATATATTATATTCTATATAATATATA TTATATTCTATATAATATATATTATATTCTATATAATATATATTATATTC TATATAATATATATTATATTCTATATAATATATATTATATTCTATATAAT ATATATTATATTCTATATAATATATATTATATTCTATATAATATATATTA TATTCTATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp1 HG02258.hp1 HG03139.hp1	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0003 a0010c0024t0015 a0010c0024t0003 a0010c0024t0015	a0010c0024t0003g0075 a0010c0024t0015g0127 a0010c0024t0003g0075 a0010c0024t0015g0127	2	31	0.0645	210	c.373 others(229): Show c.3734-2907_3734-2906insATATTATATTCTATATAATATATATT ATATTCTATATAATATATATTATATTCTATATAATATATATTATATTCTA TATAATATATATTATATTCTATATAATATATATTATATTCTATATAATAT ATATTATATTCTATATAATATATATTATATTCTATATAATATATATTATA TTCTATATAATATATATTATATTCTATATAATAT	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO7A_chr11_77123246_77220241	77197793	G G	GCCTACAA others(203): Show GCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTG CTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCT GCAACGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAAT TCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCT CCAGCCCACAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0001 a0011c0028t0001	a0011c0028t0001g0319 a0011c0028t0001g0319	1	152	0.0066	210	c.444 others(227): Show c.4441+196_4441+197insCTACAAATTCTCAGGTACCCCGCAGCCT GCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAAT TCTCAGGTACCCCGCAGCCTGCAACGCTCCCAGTCCCTTGCTCTGTAGCT CCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCC CAGTCCCTTGCTCTGTAGCTCCAGCCCACAAC	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	33/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYT1L_chr2_1784113_2336275	2034868	A A	AACAATCT others(203): Show AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCAACAATCTCCACCCTCCAATGTGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAAC TTCTCCCCAACAATCTCCACCCTCCAATGAGGGTGCAGAAGAGAGCTCCT AACTTCTCCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0092 a0001c0005t0011g0092	1	102	0.0098	210	c.-15 others(231): Show c.-158+19109_-158+19110insGGGGAGAAGTTAGGAGCTCTCTTC TGCACCCTCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAGCTCTC TTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAGCTC TCTTCTGCACCCACATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAG CTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
NAP1L5_chr4_88690913_88702829	88699285	T T	TTCCCCAC others(203): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCTCTTCCTCCCC ACCCACCCACCCAGCCCCACCCTCTTCCTCCCCACCCACCCACCCAGCCC CACCCTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG03239.hp2 NA21309.hp1 HG01168.hp1 HG03239.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	3	301	0.0100	210	c.-15 others(221): Show c.-1532_-1531insGGAAGAGGGTGGGGCTGGGTGGGTGGGTGGGGAG GAAGAGGGTGGGGCTGGGTGGGTGGGTGGGGAGGAAGAGGGTGGGGCTGG GTGGGTGGGTGGAGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGG TAGGGGTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGG GGTGGGGCTGGGTGGGTGGGTGGGGA	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1457		chr4	TogoVar
NAP1L5_chr4_88690913_88702829	88699285	T T	TTCCCCAC others(203): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCTCTTCTTCCCC ACCCACCCACCCAGCCCCACCCTCTTCCTCCCCACCCACCCACCCAGCCC CACCCTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	299	0.0033	210	c.-15 others(221): Show c.-1532_-1531insGGAAGAGGGTGGGGCTGGGTGGGTGGGTGGGGAG GAAGAGGGTGGGGCTGGGTGGGTGGGTGGGGAAGAAGAGGGTGGGGCTGG GTGGGTGGGTGGAGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGG TAGGGGTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGG GGTGGGGCTGGGTGGGTGGGTGGGGA	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1457		chr4	TogoVar
NEXN_chr1_77883624_77948895	77888008	C C	CTTCTTCT others(203): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	262	0.0038	210	c.-80 others(219): Show c.-804_-803insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTTCTT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		615		chr1	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(203): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACC TCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGAAGCCCAC CTTCTCCCTGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01975.hp2 others(1): Show HG00280.hp1 HG01070.hp2 HG01975.hp2 NA19001.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0014 a0001c0001t0041 a0002c0002t0039 others(1): Show a0001c0001t0014 a0001c0001t0041 a0002c0002t0039 a0003c0003t0034	a0001c0001t0014g0297 a0001c0001t0041g0236 a0002c0002t0039g0156 others(1): Show a0001c0001t0014g0297 a0001c0001t0041g0236 a0002c0002t0039g0156 a0003c0003t0034g0210	4	123	0.0325	210	c.-16 others(231): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCC CACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAG CCCACCTTCTCCTGAAGCCCACCTTCTCCCTGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819647	G G	GTATATAC others(203): Show GTATATACATGCGTATATATGTATGTATACGTATATACATGCGTATATAT GTATGTATACGTATATACATGCGTATATATGTATGTATATGTATATATAC ACACACGTATATATATGTATGTATACGTATATATATATACACACACGTAT ATATATGTATGTATACGTATATATATATACACACACGTATATATATGTAT GTATACGTATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0135 a0001c0003t0011g0135	1	413	0.0024	210	c.289 others(227): Show c.289+4238_289+4239insTATACGTATACATACATATATATACGTG TGTGTATATATATATACGTATACATACATATATATACGTGTGTGTATATA TATATACGTATACATACATATATATACGTGTGTGTATATATACATATACA TACATATATACGCATGTATATACGTATACATACATATATACGCATGTATA TACGTATACATACATATATACGCATGTATATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993491	C C	CCCTCCCC others(203): Show CCCTCCCCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCCTCCC CCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCC TCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0007 a0006c0007t0007	a0006c0007t0007g0060 a0006c0007t0007g0060	1	332	0.0030	210	c.55 others(221): Show c.5578_*5579insCCTCCCCCCTCCCTCCCCCTCCCCCTCCCTCCCC CTCCCCCCTCCTCCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4863		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132150232	A A	ATACCACA others(203): Show ATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	255	0.0039	210	c.902 others(225): Show c.902-749_902-748insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(203): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02818.hp1 HG03471.hp2 others(3): Show HG00544.hp2 HG02818.hp1 HG03471.hp2 HG03540.hp2 HG03831.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0019 a0001c0001t0023 a0002c0002t0002	a0001c0001t0002g0051 a0001c0001t0003g0115 a0001c0001t0009g0082 others(3): Show a0001c0001t0002g0051 a0001c0001t0003g0115 a0001c0001t0009g0082 a0001c0001t0019g0050 a0001c0001t0023g0168 a0002c0002t0002g0040	6	13	0.4615	210	c.175 others(231): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(203): Show AAAAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	35	0.0286	210	c.-10 others(231): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTCTTTCCTTTTTTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NSMF_chr9_137442570_137464334	137450479	T T	TGCCTCTT others(203): Show TGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTC CCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCC CTTTGATCTCCCCCACCACACGCCTCTTCCCCTTGATCTCCCCCACCACA CGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTC CCCCACCACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	385	0.0026	210	c.123 others(227): Show c.1237-225_1237-224insGTGTGGTGGGGGAGATCAAAGGGAAGAG GCGTGTGGTGGGGGAGATCAAAGGGAAGAGGCGTGTGGTGGGGGAGATCA AGGGGAAGAGGCGTGTGGTGGGGGAGATCAAAGGGAAGAGGCGTGTGGTG GGGGAGATCAAAGGGAAGAGGCGTGTGGTGGGGGAGATCAAAGGGAAGAG GCGTGTGGTGGGGGAGATCAAAGGGAAGAGGC	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
NSMF_chr9_137442570_137464334	137450496	C C	CTCCCCCA others(203): Show CTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCT TCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACC ACACGCCTCTTCCCCTTGATCTCCCCCACCACACGCCTCTTCCCTTTGAT CTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCT TCCCTTTGATT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02015.hp1 HG02056.hp1 others(18): Show HG00597.hp1 HG02015.hp1 HG02056.hp1 HG02523.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp1 NA19002.hp2 NA19005.hp2 NA19057.hp1 NA19070.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0005 a0001c0001t0001g0113 a0001c0001t0001g0115 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0019g0098	21	411	0.0511	210	c.123 others(227): Show c.1237-242_1237-241insAATCAAAGGGAAGAGGCGTGTGGTGGGG GAGATCAAAGGGAAGAGGCGTGTGGTGGGGGAGATCAAAGGGAAGAGGCG TGTGGTGGGGGAGATCAAGGGGAAGAGGCGTGTGGTGGGGGAGATCAAAG GGAAGAGGCGTGTGGTGGGGGAGATCAAAGGGAAGAGGCGTGTGGTGGGG GAGATCAAAGGGAAGAGGCGTGTGGTGGGGGA	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
OBI1_chr13_78609289_78664155	78659300	A A	AGAAAGAA others(203): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	220	0.0045	210	c.-18 others(219): Show c.-181_-180insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		146		chr13	TogoVar
ODAD3_chr19_11415605_11440121	11425657	A A	ATGCATAC others(203): Show ATGCATACATGCATATACGTATATATGCATACATGCATATACGTATATAT GCATACATGCATATACGTATATATGCATACATGCATATACGTATATATGC ATACATGCATATACGTATATATGCATACATGCATATACGTATATATGCAT ACATGCATATACGTATATATGCATACATGCATATACGTATATATGCATAC ATGCATATACG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp1 NA19030.hp2 others(2): Show HG02257.hp1 HG02723.hp1 NA19030.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0011 a0001c0001 a0002c0002 a0002c0011	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0011t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0002c0002t0001g0346 others(2): Show a0001c0001t0001g0140 a0001c0001t0001g0141 a0002c0002t0001g0346 a0002c0002t0003g0347 a0002c0011t0001g0343	5	385	0.0130	210	c.963 others(225): Show c.963+486_963+487insCGTATATGCATGTATGCATATATACGTATA TGCATGTATGCATATATACGTATATGCATGTATGCATATATACGTATATG CATGTATGCATATATACGTATATGCATGTATGCATATATACGTATATGCA TGTATGCATATATACGTATATGCATGTATGCATATATACGTATATGCATG TATGCATATATACGTATATGCATGTATGCA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF3_chr11_191761_205258	196540	G G	GGGGGGAC others(203): Show GGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGC ATGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGG ACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTG AGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	299	0.0033	210	c.-51 others(219): Show c.-515_-514insGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACA TGGTGAGGGGAGCATGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGG ACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTG GGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACAT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		220		chr11	TogoVar
OLA1_chr2_174067447_174253532	174092499	T T	TACTAAAA others(203): Show TACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	1	258	0.0039	210	c.729 others(229): Show c.729-10436_729-10435insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGTATTTTTAGT	OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	7/10			chr2	TogoVar
OR2T12_chr1_248285139_248308424	248306452	C C	CCCCTGAG others(203): Show CCCCTGAGGACTGGAGCCCCCAGAGGACTGGAGCCGCCTGAGGACTGGAG CCGCCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCCTGAGGACT GGAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCCCCTGAGG ACTGGAGCCGCCTGAGGACTGGAGCCACCTGAGGACTGGAGCCCCCTGAG GACTGGAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA19002.hp1 NA18979.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	264	0.0076	210	c.-32 others(221): Show c.-3297_-3296insCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGG TGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAG GGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGGCGGCTCCTGTCC TCAGGGCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTCAGGCGGCTCCAG TCCTCTGGGGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3029		chr1	TogoVar
OTUB1_chr11_63981438_64003412	63998700	C C	CAGAGTCA others(203): Show CAGAGTCAGAGGTGTCTATGCGGAGGGGGGGGCGTGGGAGGGGTGGGGAG AGGGGGGTGGGGGGGGCGGGGAGGGGGGGGGGGGGGGGGGGGGGTGGGTG TTTAGATGTTCGGTTTTGTTTAGTTAGGTTTTCTTTTTGGTCTTTGTGTT GGTTATTGTTTGTTTTTTTGTGGATACTGGTTATTGTAGTTTTTTTTTTT TATTTGTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0094 a0003c0003t0001g0094	1	328	0.0030	210	c.11 others(221): Show c.1154_*1155insAGAGTCAGAGGTGTCTATGCGGAGGGGGGGGCGT GGGAGGGGTGGGGAGAGGGGGGTGGGGGGGGCGGGGAGGGGGGGGGGGGG GGGGGGGGGTGGGTGTTTAGATGTTCGGTTTTGTTTAGTTAGGTTTTCTT TTTGGTCTTTGTGTTGGTTATTGTTTGTTTTTTTGTGGATACTGGTTATT GTAGTTTTTTTTTTTTATTTGTGTTT	OTUB1	ENSG00000167770.13	transcript	ENST00000538426.6	protein_coding		289		chr11	TogoVar
P2RX5_chr17_3668227_3701155	3680231	G G	GTCCTCCA others(203): Show GTCCTCCACCCAGTGTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCA CCCTGCGTCCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACCCAGTGT CCTCCACCCTGCATCCTCCACCCAGTGTCCTCCACCCTGCATCCTCCACC CTGCGTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCGTCC TCCACCCTGCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	184	0.0054	210	c.106 others(227): Show c.1065-448_1065-447insTGCAGGGTGGAGGACGCAGGGTGGAGGA TGCAGGGTGGAGGATGCAGGGTGGAGGACGCAGGGTGGAGGATGCAGGGT GGAGGACACTGGGTGGAGGATGCAGGGTGGAGGACACTGGGTGGAGGATG CAGGGTGGAGGACGCTGGGTGGAGGACGCAGGGTGGAGGATGCAGGGTGG AGGATGCAGGGTGGAGGACACTGGGTGGAGGA	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	10/11			chr17	TogoVar
P2RY8_chrX_1457581_1542185	1468904	T T	TCCCCTCT others(203): Show TCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCTCCCCTCTCTCC TCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTC TCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTC CCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCC CTCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	79	0.0127	210	c.-24 others(227): Show c.-24-2323_-24-2322insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGG GAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGA GAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGAGAGAGGGGAGAGGG GAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1468904	T T	TCCCCTCT others(203): Show TCCCCTCTCCCCTCTCCCCTCTCTCCTCTCCCCTCTCCCCTCCCCTTCCC TCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTC TCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTC CCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCC CTCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19056.hp1 NA18970.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0094 a0001c0001t0001g0062 a0001c0001t0001g0094	2	80	0.0250	210	c.-24 others(227): Show c.-24-2323_-24-2322insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGG GAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGA GAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGA GGGGAGAGGAGAGAGGGGAGAGGGGAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PAK1_chr11_77317017_77479094	77332345	G G	GGAAAGGG others(203): Show GGAAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAG GGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGG GGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGA AGGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00099.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0023 a0001c0002t0008g0024 a0001c0002t0008g0023 a0001c0002t0008g0024	2	279	0.0072	210	c.155 others(227): Show c.1551+384_1551+385insTTCCCTTCCCTTCCTTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCT CCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTTCCCTTCCCTTTC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196811335	C C	CCCTCCCC others(203): Show CCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTT CCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTTC CCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCC TTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG04184.hp1 NA18970.hp2 HG02165.hp2 HG04184.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0002g0092 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0002g0092	3	61	0.0492	210	c.773 others(225): Show c.773+685_773+686insCCCCTCCCTTCCCTCCCTCCCCTCCCTCCC TTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTC CCTTCCTTCCCTCCCTTCCCTTCCCTTCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(203): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCT TCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19079.hp1 NA18999.hp2 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0032 a0002c0002t0004g0113 a0002c0002t0004g0032 a0002c0002t0004g0113	2	170	0.0118	210	c.226 others(229): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTC CTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARVB_chr22_44019302_44177939	44113517	A A	ACACAGAT others(203): Show ACACAGATACATTGTTACTAACTAAGGCCCTGCACCAGCACAGATACATT GTTACTAAGGCCCTACACCAGCACAGATACATTGTTACTAAGGCCCTGCA CCAACACAGATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATAC ATTGTTACTAAGTAAGGCCCTGCACCAGCACAGATACATTGTTACTAAGG CCCTACACCAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0066 a0001c0002t0010g0066	1	236	0.0042	210	c.274 others(227): Show c.274-5485_274-5484insGCACAGATACATTGTTACTAAGGCCCTA CACCAGCACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACGT TGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAA GGCCCTGCACCAGCACAGATACATTGTTACTAAGGCCCTACACCAGCACA GATACATTGTTACTAACTAAGGCCCTGCACCA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGC others(203): Show GGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGG CGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGG GGGGCGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGG GGGGGCGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGG GCGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0046 a0001c0022t0001g0046	1	81	0.0123	210	c.-95 others(219): Show c.-958_-957insGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGG GGGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCG GGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGG GGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCG GGGGGGCGGGGGGGCGGGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar
PDCD6_chr5_266646_319974	318038	C C	CTTGCCCT others(203): Show CTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCC CTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCC CCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACA CCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	358	0.0028	210	c.35 others(221): Show c.3523_*3524insTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCA CCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCT CCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCT CACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3065		chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200581	C C	CTACACGT others(203): Show CTACACGTATACATACACGTGTATGTACAGCTACACGTATACATACACGT GTATGTACAGCTACACGTATACATACACGTGTATGTACAGATACACGTAT ACATACACGTGTATGTACAGATACACGTATACATACACGTGTATGTACAG ATACACGTATACATACACGTGTATGTACAGATACACGTATACATACACGT GTATGTACAGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	39	0.0256	210	c.648 others(227): Show c.648-7046_648-7045insTCTGTACATACACGTGTATGTATACGTG TATCTGTACATACACGTGTATGTATACGTGTATCTGTACATACACGTGTA TGTATACGTGTATCTGTACATACACGTGTATGTATACGTGTATCTGTACA TACACGTGTATGTATACGTGTAGCTGTACATACACGTGTATGTATACGTG TAGCTGTACATACACGTGTATGTATACGTGTA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200581	C C	CTACACGT others(203): Show CTACACGTATACATACACGTGTATGTACAGCTACACGTATACATACACGT GTATGTACAGCTACACGTATACATACACGTGTATGTACAGCTACACGTAT ACATACACGTGTATGTACAGATACACGTATACATACACGTGTATGTACAG ATACACGTATACATACACGTGTATGTACAGATACACGTATACATACACGT GTATGTACAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	39	0.0256	210	c.648 others(227): Show c.648-7046_648-7045insTCTGTACATACACGTGTATGTATACGTG TATCTGTACATACACGTGTATGTATACGTGTATCTGTACATACACGTGTA TGTATACGTGTATCTGTACATACACGTGTATGTATACGTGTAGCTGTACA TACACGTGTATGTATACGTGTAGCTGTACATACACGTGTATGTATACGTG TAGCTGTACATACACGTGTATGTATACGTGTA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200581	C C	CTACACGT others(203): Show CTACACGTATACATACACGTGTATGTACAGCTACACGTATACATACACGT GTATGTACAGCTACACGTATACATACACGTGTATGTACAGCTACACGTAT ACATACACGTGTATGTACAGCTACACGTATACATACACGTGTATGTACAG ATACACGTATACATACACGTGTATGTACAGATACACGTATACATACACGT GTATGTACAGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	39	0.0256	210	c.648 others(227): Show c.648-7046_648-7045insTCTGTACATACACGTGTATGTATACGTG TATCTGTACATACACGTGTATGTATACGTGTATCTGTACATACACGTGTA TGTATACGTGTAGCTGTACATACACGTGTATGTATACGTGTAGCTGTACA TACACGTGTATGTATACGTGTAGCTGTACATACACGTGTATGTATACGTG TAGCTGTACATACACGTGTATGTATACGTGTA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200581	C C	CTACACGT others(203): Show CTACACGTATACATACACGTGTATGTACAGCTACACGTATACATACACGT GTATGTACAGCTACACGTATACATACACGTGTATGTACAGCTACACGTAT ACATACACGTGTATGTACAGCTACACGTATACATACACGTGTATGTACAG CTACACGTATACATACACGTGTATGTACAGATACACGTATACATACACGT GTATGTACAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	39	0.0256	210	c.648 others(227): Show c.648-7046_648-7045insTCTGTACATACACGTGTATGTATACGTG TATCTGTACATACACGTGTATGTATACGTGTAGCTGTACATACACGTGTA TGTATACGTGTAGCTGTACATACACGTGTATGTATACGTGTAGCTGTACA TACACGTGTATGTATACGTGTAGCTGTACATACACGTGTATGTATACGTG TAGCTGTACATACACGTGTATGTATACGTGTA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDGFC_chr4_156755454_156976799	156825575	T T	TGAAGAAG others(203): Show TGAAGAAGAAGAAGAAGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGA AGGAGAAGAAGGAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0184 a0001c0001t0016g0184	1	193	0.0052	210	c.315 others(229): Show c.315-14559_315-14558insCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCT CCTTCTTCTCCTTCTTCTCTTCTTCTTCTTCTTC	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CGAAAGAA others(203): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAA GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	202	0.0050	210	c.20- others(225): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTTCTTT TCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741350	G G	GGGGGGCT others(203): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCAGGGGGCTCGCGGGGGGCTGG CGGGCTCGCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGC GGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19043.hp1 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0080 a0001c0001t0007 a0001c0001t0080	a0001c0001t0007g0188 a0001c0001t0080g0122 a0001c0001t0007g0188 a0001c0001t0080g0122	2	297	0.0067	210	c.143 others(225): Show c.143-312_143-311insCTCGCGGGGGGCTCGCGGGGGGGTTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCAGGGGGC TCGCGGGGGGCTGGCGGGCTCGCGGGGGGCTCGCGGGGGGGTTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGCTGGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741372	C C	CGGGGGGC others(203): Show CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGC GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTCGCG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	254	0.0039	210	c.143 others(225): Show c.143-287_143-286insCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCG GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	976943	C C	CCCCGGGA others(203): Show CCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCC CCACCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAA CCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAA TCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCA CGACCCCCAAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03704.hp1 HG03239.hp2 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	370	0.0054	210	c.215 others(227): Show c.2150-320_2150-319insATTGGGGGTCGTGGGAGGCGGTTCTCGG GGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGG CGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCGG TGGGGGCAGGCGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGG GGTTGCGCGGGGAGCGGGAGGCGGTTCCCGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX10_chr1_2398974_2417564	2401365	C C	CCCTCCTC others(203): Show CCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTC CTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCC TCCCTCCCTCCTCCCCTCCTCCCCCTCCTCCCTCCACCTCCCTCCCTCCC TCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTT TCCTACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0064 a0001c0001t0025g0064	1	356	0.0028	210	c.44 others(221): Show c.4400_*4401insAGGTGGTAGGAAAGGAGGAGGGAGGGAGGAGGAG GGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGGAGGTGGAGGGAG GAGGGGGAGGAGGGGAGGAGGGAGGGAGGAAGAAGGGAGGAGGGAGGAGG AGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGGGAGGGAAGGAGGGAGG AGGAGGGAGGAGGAGGGAGGAGGAGG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2608		chr1	TogoVar
PIGZ_chr3_196941356_196973833	196973810	G G	GCCCCGTC others(203): Show GCCCCGTCCGGGAGGTGAGGAGCGCCTCTGCCCGGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGACGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0259 a0006c0013t0001g0259	1	310	0.0032	210	c.-51 others(221): Show c.-5125_-5124insTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACGTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCCGGGCAG AGGCGCTCCTCACCTCCCGGACGGGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4978		chr3	TogoVar
PIGZ_chr3_196941356_196973833	196973810	G G	GCCCCGTC others(203): Show GCCCCGTCCGGGAGGTGAGGAGCGCCTCTGCCCGGCCCGGCTGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGACGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01123.hp2 others(17): Show HG00140.hp1 HG00741.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01975.hp2 HG02027.hp2 HG02559.hp2 HG02698.hp2 HG03490.hp1 HG03669.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA20905.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0004 a0001c0006 others(6): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0022 a0002c0002 a0002c0025 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0012t0001 a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0002c0025t0001 a0009c0024t0001	a0001c0001t0001g0175 a0001c0001t0001g0248 a0001c0001t0002g0264 others(15): Show a0001c0001t0001g0175 a0001c0001t0001g0248 a0001c0001t0002g0264 a0001c0001t0002g0342 a0001c0004t0001g0101 a0001c0004t0001g0255 a0001c0004t0001g0257 a0001c0004t0001g0260 a0001c0006t0001g0339 a0001c0007t0001g0258 a0001c0007t0001g0265 a0001c0012t0001g0037 a0001c0022t0001g0267 a0002c0002t0001g0343 a0002c0002t0002g0262 a0002c0025t0001g0263 a0009c0024t0001g0038 a0009c0024t0001g0251	20	329	0.0608	210	c.-51 others(221): Show c.-5125_-5124insTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACGTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCCGGGCAG AGGCGCTCCTCACCTCCCGGACGGGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4978		chr3	TogoVar

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